Novel folliculin gene mutation and an elevated serum vascular endothelial growth factor-D level in the context of cystic lung disease

Birt-Hogg-Dubé syndrome (BHD) is a rare autosomal dominant genetic disorder characterized by the development of benign cutaneous neoplasms, renal tumors, and pulmonary cysts. Caused by mutations in the folliculin (FLCN) gene on chromosome 17, the pulmonary manifestations observed in BHD include multiple subpleural cysts that are frequently associated with pneumothorax. Diffuse cystic lung disease is also commonly encountered in …